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Erythrocyte carbonic anhydrase I: inherited deficiency in humans.
The virtually complete absence of erythrocyte carbonic anhydrase I is reported in three members of a family from the Greek island of Icaria. Two members with moderately reduced levels are believed to be heterozygous for the deficiency. There are no obvious hematological or renal consequences of the severe deficiency state.
PMID: 406674 [PubMed - indexed for MEDLINE]
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Cited by 7 PubMed Central articles
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Expression of a novel carbonic anhydrase, CA XIII, in normal and neoplastic colorectal mucosa.
Kummola L, Hämäläinen JM, Kivelä J, Kivelä AJ, Saarnio J, Karttunen T, Parkkila S.
BMC Cancer. 2005 Apr 18; 5:41. Epub 2005 Apr 18.
[BMC Cancer. 2005]
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A widespread silent polymorphism of human carbonic anhydrase III (31 Ile in equilibrium Val): implications for evolutionary genetics.
Hewett-Emmett D, Welty RJ, Tashian RE.
Genetics. 1983 Oct; 105(2):409-20.
[Genetics. 1983]
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Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8.
Venta PJ, Shows TB, Curtis PJ, Tashian RE.
Proc Natl Acad Sci U S A. 1983 Jul; 80(14):4437-40.
[Proc Natl Acad Sci U S A. 1983]
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